17902 Fibrous Dysplasia

Overview

Fibrous dysplasia is a rare bone condition where normal bone is replaced by a softer, fibrous (scar-like) tissue and weak, poorly formed bone. This can make the affected bone painful, misshapen, and more likely to break.

No, fibrous dysplasia is rare. It affects about 1 in 15,000 to 30,000 people worldwide.

It can affect anyone, but it is most often diagnosed in children, teenagers, and young adults. The condition may first be discovered when someone has a bone fracture or an abnormal bone shape.

Symptoms

Common symptoms

• Bone pain that can be mild or severe
• Swelling or a noticeable lump on a bone
• Bones that bend or become deformed
• Bone fractures, often after very little or no injury
• One leg shorter than the other
• Curved bones in the leg (bowlegs)
• Scoliosis (a curved spine)

Symptoms in children

• Earlier and faster progression of bone changes
• Fractures may be the first sign
• A limp or uneven leg length
• Bone pain that gets worse with activity

Symptoms in older adults

• Long-standing symptoms that may have been present for years
• Increasing pain or stiffness in affected bones
• New fractures due to weakened bone
• Changes in bone shape that affect daily activities

Causes

Main causes

• A change (mutation) in the GNAS gene that occurs by chance before birth, not inherited from parents.
• The mutation causes bone-forming cells to produce abnormal fibrous tissue instead of healthy bone.

Risk factors

• There are no known risk factors. It happens randomly in people who are otherwise healthy.

When to see a doctor

See a doctor urgently if:

• If you have sudden, severe bone pain or a suspected fracture, see a doctor or go to an emergency department right away.
• If you notice a bone has changed shape quickly, seek medical advice.

Book a routine appointment if:

• If you have persistent bone pain, swelling, or a limp, make a doctor's appointment.
• If you have been diagnosed with fibrous dysplasia and notice new symptoms, tell your specialist.

Diagnosis

A doctor will ask about your symptoms, examine the painful or swollen area, and usually arrange imaging tests. If the imaging is not clear, a small sample of the affected bone (a biopsy) may be taken.

Tests that may be done

• X-rays to see bone density and shape
• Bone scan (scintigraphy) to find all affected bones
• CT or MRI scans for detailed images
• Blood and urine tests to check bone turnover
• A biopsy to confirm the diagnosis if needed

What to expect at your appointment

The diagnosis may take some time because symptoms can mimic other bone problems. If you are diagnosed, your doctor may refer you to a specialist in bone diseases (an endocrinologist or orthopedic doctor).

Treatment

Treatment focuses on relieving pain, preventing fractures, and correcting deformities. There is no cure, but the condition can be managed well with the right care.

Self-care at home

• Rest when bones hurt, but keep moving gently to avoid stiffness.
• Use braces or supports if recommended by your doctor.
• Avoid high-impact activities like running or jumping – choose walking, swimming, or cycling instead.
• Manage pain with simple measures like heat packs, gentle massage, and relaxation techniques.

Medical treatments

Medicines are available to help reduce bone pain and lower the chance of fractures. These include drugs that slow down the breakdown of bone (called bisphosphonates) and other pain-relief options. Your doctor will discuss the best plan for you. Always take medicines exactly as prescribed.

When is surgery considered?

Surgery is sometimes needed to fix a bone that has broken, to correct a deformity, or to relieve pressure on nerves. The decision to operate depends on which bones are affected and how much symptoms interfere with daily life.

Living with this condition

Living with fibrous dysplasia means being aware of your body and protecting your bones. Regular check-ups with your specialist help keep track of any changes. If you have pain, pace yourself and ask for support when needed.

Lifestyle tips

• Keep a steady, healthy routine with enough sleep and rest.
• Avoid smoking and limit alcohol – both weaken bones.
• Use caution on uneven surfaces to reduce the risk of falls.
• Wear supportive shoes and, if appropriate, use a walking stick or brace.

Diet and exercise

Eat a balanced diet rich in calcium and vitamin D, which are important for bone health. Good sources include dairy products, leafy green vegetables, and oily fish. Low-impact exercises like swimming and cycling help keep your muscles strong without putting too much stress on fragile bones.

Mental health and emotional wellbeing

Living with a chronic condition can sometimes feel stressful or lonely. It is normal to feel worried or frustrated. Talking to friends, family, or a counselor can help. If you are struggling with low mood, please let your doctor know – support is available.

Prevention

No, fibrous dysplasia cannot be prevented because it is caused by a random gene change that happens before birth. But you can reduce complications by getting a proper diagnosis, following your treatment plan, and avoiding activities that risk fractures.

Vaccines

There is no vaccine to prevent fibrous dysplasia.

Screening programmes

There is no routine screening test for the general public. However, if you have a family member with fibrous dysplasia, your doctor may suggest evaluation if you have symptoms.

Complications

If left untreated

• Weak bones that break more easily
• Bones that bend or become deformed, affecting movement
• Chronic bone pain
• Rarely, the affected bone may become cancerous (this is very uncommon)

Long-term outlook

The outlook for people with fibrous dysplasia is generally good. Many people have only mild symptoms and lead full, active lives. With regular medical care, the condition can be managed well, and severe complications are rare.

Find support

External links open third-party websites. Ruqelo Health is not responsible for external content. Listing an organisation does not imply endorsement.